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Recurrent Arginine Substitutions in the ACTG2 Gene are the ..:
Assia Batzir, Nurit
;
Kishor Bhagwat, Pranjali
;
Larson, Austin
...
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8. , 2020
Link:
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-..
RT Journal T1
Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftalborgunivpubl:oai:pure.atira.dk:publications_ac70c72e-6ac9-406c-be37-06e0406e78f8&Exemplar=1&LAN=DE A1 Assia Batzir, Nurit A1 Kishor Bhagwat, Pranjali A1 Larson, Austin A1 Coban Akdemir, Zeynep A1 Bagłaj, Maciej A1 Bofferding, Leon A1 Bosanko, Katherine B A1 Bouassida, Skander A1 Callewaert, Bert A1 Cannon, Ashley A1 Enchautegui Colon, Yazmin A1 Garnica, Adolfo D A1 Harr, Margaret H A1 Heck, Sandra A1 Hurst, Anna C A1 Jhangiani, Shalini N A1 Isidor, Bertrand A1 Littlejohn, Rebecca O A1 Liu, Pengfei A1 Magoulas, Pilar A1 Mar Fan, Helen A1 Marom, Ronit A1 McLean, Scott A1 Nezarati, Marjan M A1 Nugent, Kimberly M A1 Petersen, Michael B A1 Linda Rocha, Maria A1 Roeder, Elizabeth A1 Smigiel, Robert A1 Tully, Ian A1 Weisfeld-Adams, James A1 Wells, Katerina O A1 Genomics, Baylor-Hopkins Center for Mendelian A1 Posey, Jennifer E A1 Lupski, James R A1 Beaudet, Arthur L A1 Wangler, Michael F YR 2020 K1 ACTG2 K1 dysmotility K1 megacystis-microcolon intestinal hypoperistalsis K1 smooth muscle K1 visceral myopathy JF https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8 LK http://dx.doi.org/https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8 DO https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8 SF ELIB - SuUB Bremen
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